HYPERGLOBULIA HEREDITARY and FAMILY (Greek erythros red + kytos a receptacle, here — a cell + - osis; synonym: a high-quality family polycythemia, primary hyperglobulia of children, a cryptogenic hyperglobulia, an Osler's disease of the childhood) — genetically caused group of the diseases which are characterized by increase in blood of a hemoglobin content and erythrocytes, changes of viscosity of blood and disturbances of microcirculation.
The first messages on a hereditary and family hyperglobulia appeared at the beginning of 20 century when the mechanisms regulating formation of erythrocytes, and also relationship between structure and function of hemoglobin were not known yet. First abnormal hemoglobin (Hb Chesapeake), defiant E. the N - page, was opened for S. Charache in 1966. In our country of L. A. Polyakova, BB. N. Tokarev and others (1974 — 1979) described the so-called Chuvash type of a hereditary and family hyperglobulia which is found, as a rule, in Chuvash the ASSR (it is revealed apprx. 140 patients).
Etiology and pathogeny. Etiological factors E. N - page are genovariations, to-rye lead to formation of abnormal haemo globins with the increased affinity to oxygen (it is known apprx. 30 such haemo globins), to deficit of enzyme of diphosphoglycerate mutase (a bisfos-foglitseromutaza; KF 22.214.171.124) or strengthening of ATP in erythrocytes. AA. the N - page can be caused by increase in formation of erythropoetin (see) in kidneys (an autosomal and recessive mode of inheritance). In some cases E. the N - page can imitate a polycythemia (see). The Chuvash type of a hyperglobulia is hereditary and family with not clear genesis (an autosomal and recessive mode of inheritance).
Abnormal haemo globins with the increased affinity to oxygen are inherited on autosomal dominant mu to type. At defect in a proteinaceous part of a molecule of hemoglobin compound of hemoglobin with oxygen becomes steadier and return of oxygen to fabrics is at a loss. At the same time the fabric hypoxia, fiziol develops. reaction on to-ruyu is increase in quantity of erythrocytes. The increased affinity to oxygen is caused by replacement of one of the amino-acid remains of a proteinaceous molecule of hemoglobin. There are several groups of the amino-acid replacements resulting in the increased affinity of hemoglobin to oxygen. Considerably 2,3 diphosphoglycerates in erythrocytes owing to deficit of enzyme of diphosphoglycerate mutase (an autosomal and recessive mode of inheritance) and the increased concentration of ATP in erythrocytes (an autosomal and dominant mode of inheritance) increase affinity of hemoglobin to oxygen the lowered contents. At the same time as a result of bad return of oxygen to fabrics there is a generalized fabric hypoxia, including and the hypoxia of kidneys leading to the hyperglobulia caused by increase in formation of erythropoetin.
Clinical picture. Expressiveness a wedge, symptoms varies and depends on a mode of inheritance. At an autosomal and dominant mode of inheritance the disease, as a rule, proceeds asymptomatically. A wedge, manifestations are most expressed at an autosomyo-recessive mode of inheritance, the Chuvash type belongs to Krom. This E. the N - page comes to light preferential at children's and youthful age. The main symptomatology is caused by the plethora (see) raised by viscosity of blood, disturbances of microcirculation (see). The most frequent complaints are the headache, fatigue, the lower extremity pain and in heart. At all patients red cyanosis comes to light, at a number of patients the moderate hepatomegalia, a splenomegaly, a symptom of «drum sticks» and «clock glasses» is noted. From complications fibrinferments of vessels of a brain and capillary bleeding are most often observed.
In blood substantial increase of a hemoglobin content and quantity of erythrocytes is noted. The Gemato-kritny number (see) at a number of patients can reach 90% (a so-called syndrome of solid blood). Viscosity of blood, as a rule, exceeds 8,0. ROE is slowed sharply down and often is not registered.
At a trepanobiopsiya of an ileal bone the hyperplasia of an erythroidal sprout of a hemopoiesis, elements of reorganization of a bone tissue with the raised resorption of a bone and osteoblastic reaction, and also focal growths of fibrous substances against the background of massive disturbances of microcirculation come to light.
The diagnosis is established on the basis of the anamnesis, by a wedge, pictures, results of a gemogramma (see), gistol. researches of marrow. For identification of abnormal hemoglobin with the increased affinity to oxygen and deficit 2,3-difosfoglitse-rata define oxygen dis-sotsionnuyu a curve and P50 of blood (see Hemoglobin). Abnormal hemoglobin can be found by means of an electrophoresis (see). Differential diagnosis is carried out with the polycythemia which is observed usually at the age of 55 — 60 years, for a cut the expressed splenomegaly, a leukocytosis, a thrombocytosis and a trekhrostkovy hyperplasia of marrow are characteristic (see the Polycythemia), and with secondary hyperglobulias (see), the wedge, a picture to-rykh is defined by a basic disease.
The symptomatic treatment, is directed to removal of excess quantity of erythrocytes and reduction of viscosity of blood. Bloodlettings are for this purpose recommended, to-rye reasonable to combine with purpose of anticoagulating means (acetilsalicylic and nicotinic to - you, curantyl), and also a plasma exchange (see).
The forecast for life at an autosomal and dominant mode of inheritance in most cases favorable; at an autosomal and recessive mode of inheritance the forecast less favorable since vascular complications are possible.
Prevention is not developed.
Bibliography: We hoot V. I., Mosk
Leva G. P. and Ivanov V. S. Uroven of erythropoetin at patients with a local family hyperglobulia, Probl. gematol. and modulation, blood, t. 23, No. 7, page 15, 1978; Dmitriyev M. G. and d river. Transport of oxygen and acid-base equilibrium at patients with a local hereditary hyperglobulia, in the same place, t. 24, No. 11, page 8, 1979; Yefimova N. K. and Polyakova of L. A. Sistem of a hemostasis and hemocoagulation at patients with a local family hyperglobulia, in the same place, t. 23, No. 7, page 11, 1978; Hereditary anemias and hemoglobinopathies, under the editorship of Yu. N. Tokarev, etc., page 312, M., 1983; Polyakova L. A. Family hyperglobulia at inhabitants Chuvash the ASSR, Probl. gematol. and modulation, blood, t. 19, No. 10, page 30, 1974; T about to are e in Yu. N., etc. Hereditary hyperglobulia, in the same place, t. 24, No. I, page 3, 1979; Adamson J. W. Familiae polycythemia, Semin. Hematol., v. 12, p. 383, 1975; Charache S., Weathe-г a 1 1 D. J. ampere-second of 1 e g g J. B. Polycythemia associated with hemoglobinopathy, J. clin. Invest., v. 45, p. 813, 1966.
BB. H. Tokarev.